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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNPLA6
(Q590P +3 more)
Single nucleotide variant
(missense variant)
Laurence-Moon syndrome
GUncertain significance
PNPLA6
(R1184H +3 more)
Single nucleotide variant
(missense variant)
Laurence-Moon syndrome
+1 more
GUncertain significance